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Q14331 (FRG1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 119. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein FRG1
Alternative name(s):
FSHD region gene 1 protein
Gene names
Name:FRG1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length258 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May have a role in processing of pre-rRNA or in the assembly of rRNA into ribosomal subunits. May be involved in pre-mRNA splicing.

Subunit structure

Identified in the spliceosome C complex. Ref.7

Subcellular location

NucleusCajal body. Nucleus speckle. Nucleusnucleolus. Note: First expressed in Cajal bodies and nuclear speckles. As speckle expression diminishes, expression is seen in dense structures (dense fibrillar component and the granular component) of the nucleolus. Ref.6

Tissue specificity

Expressed in adult muscle, lymphocytes, fetal brain, muscle, and placenta.

Sequence similarities

Belongs to the FRG1 family.

Ontologies

Keywords
   Biological processmRNA processing
mRNA splicing
Ribosome biogenesis
rRNA processing
   Cellular componentNucleus
Spliceosome
   Coding sequence diversityPolymorphism
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processmRNA splicing, via spliceosome

Inferred by curator Ref.7. Source: UniProtKB

rRNA processing

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentCajal body

Inferred from electronic annotation. Source: UniProtKB-SubCell

catalytic step 2 spliceosome

Inferred from direct assay Ref.7. Source: UniProtKB

nuclear speck

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleolus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionpoly(A) RNA binding

Inferred from direct assay PubMed 22658674. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

CWC22Q9HCG82EBI-2515248,EBI-373289

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 258258Protein FRG1
PRO_0000220767

Regions

Motif22 – 3211Nuclear localization signal Potential
Motif235 – 25117Bipartite nuclear localization signal Potential
Compositional bias8 – 3225Lys-rich

Natural variations

Natural variant191T → A.
Corresponds to variant rs17797703 [ dbSNP | Ensembl ].
VAR_049105
Natural variant661K → E.
Corresponds to variant rs17406826 [ dbSNP | Ensembl ].
VAR_033938

Sequences

Sequence LengthMass (Da)Tools
Q14331 [UniParc].

Last modified November 1, 1996. Version 1.
Checksum: FFBC981B7602BDB3

FASTA25829,172
        10         20         30         40         50         60 
MAEYSYVKST KLVLKGTKTK SKKKKSKDKK RKREEDEETQ LDIVGIWWTV TNFGEISGTI 

        70         80         90        100        110        120 
AIEMDKGTYI HALDNGLFTL GAPHKEVDEG PSPPEQFTAV KLSDSRIALK SGYGKYLGIN 

       130        140        150        160        170        180 
SDGLVVGRSD AIGPREQWEP VFQNGKMALL ASNSCFIRCN EAGDIEAKSK TAGEEEMIKI 

       190        200        210        220        230        240 
RSCAERETKK KDDIPEEDKG NVKQCEINYV KKFQSFQDHK LKISKEDSKI LKKARKDGFL 

       250 
HETLLDRRAK LKADRYCK 

« Hide

References

« Hide 'large scale' references
[1]"Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35."
van Deutekom J.C.T., Lemmers R.J.L.F., Grewal P.K., van Geel M., Romberg S., Dauwerse H.G., Wright T.J., Padberg G.W., Hofker M.H., Hewitt J.E., Frants R.R.
Hum. Mol. Genet. 5:581-590(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements."
van Geel M., Heather L.J., Lyle R., Hewitt J.E., Frants R.R., de Jong P.J.
Genomics 61:55-65(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Skeletal muscle.
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Uterus.
[6]"FRG1P is localised in the nucleolus, Cajal bodies, and speckles."
van Koningsbruggen S., Dirks R.W., Mommaas A.M., Onderwater J.J., Deidda G., Padberg G.W., Frants R.R., van der Maarel S.M.
J. Med. Genet. 41:E46-E46(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
[7]"Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis."
Jurica M.S., Licklider L.J., Gygi S.P., Grigorieff N., Moore M.J.
RNA 8:426-439(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE SPLICEOSOMAL C COMPLEX.
[8]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
L76159 mRNA. Translation: AAA95939.1.
AF146191 Genomic DNA. Translation: AAD46768.1.
AK291890 mRNA. Translation: BAF84579.1.
CH471056 Genomic DNA. Translation: EAX04600.1.
BC053997 mRNA. Translation: AAH53997.1.
RefSeqNP_004468.1. NM_004477.2.
UniGeneHs.203772.

3D structure databases

ProteinModelPortalQ14331.
SMRQ14331. Positions 41-188.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108764. 6 interactions.
IntActQ14331. 4 interactions.
MINTMINT-3029354.
STRING9606.ENSP00000226798.

PTM databases

PhosphoSiteQ14331.

Polymorphism databases

DMDM18202499.

Proteomic databases

PaxDbQ14331.
PeptideAtlasQ14331.
PRIDEQ14331.

Protocols and materials databases

DNASU2483.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000226798; ENSP00000226798; ENSG00000109536.
ENST00000564393; ENSP00000454708; ENSG00000260380.
GeneID2483.
KEGGhsa:2483.
UCSCuc003izs.3. human.

Organism-specific databases

CTD2483.
GeneCardsGC04P190861.
H-InvDBHIX0058694.
HIX0176447.
HGNCHGNC:3954. FRG1.
MIM601278. gene.
neXtProtNX_Q14331.
Orphanet269. Facioscapulohumeral dystrophy.
PharmGKBPA28372.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG289849.
HOGENOMHOG000007130.
HOVERGENHBG018564.
InParanoidQ14331.
KOK13122.
OMASTRERWE.
PhylomeDBQ14331.
TreeFamTF314108.

Gene expression databases

ArrayExpressQ14331.
BgeeQ14331.
CleanExHS_FRG1.
GenevestigatorQ14331.

Family and domain databases

InterProIPR008999. Actin_cross-linking.
IPR010414. FRG1.
[Graphical view]
PANTHERPTHR12928. PTHR12928. 1 hit.
PfamPF06229. FRG1. 1 hit.
[Graphical view]
SUPFAMSSF50405. SSF50405. 1 hit.
ProtoNetSearch...

Other

ChiTaRSFRG1. human.
GeneWikiFRG1.
GenomeRNAi2483.
NextBio9821.
PROQ14331.
SOURCESearch...

Entry information

Entry nameFRG1_HUMAN
AccessionPrimary (citable) accession number: Q14331
Secondary accession number(s): A8K775
Entry history
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: November 1, 1996
Last modified: April 16, 2014
This is version 119 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM